Incidental Mutation 'IGL01866:Stt3a'
ID 178512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stt3a
Ensembl Gene ENSMUSG00000032116
Gene Name STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)
Synonyms Itm1
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL01866
Quality Score
Status
Chromosome 9
Chromosomal Location 36640640-36678918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36645662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 676 (D676E)
Ref Sequence ENSEMBL: ENSMUSP00000113116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120381]
AlphaFold P46978
Predicted Effect probably benign
Transcript: ENSMUST00000120381
AA Change: D676E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: D676E

DomainStartEndE-ValueType
Pfam:STT3 17 484 2e-163 PFAM
Pfam:PMT_2 97 257 9.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135934
SMART Domains Protein: ENSMUSP00000117794
Gene: ENSMUSG00000032116

DomainStartEndE-ValueType
Pfam:STT3 1 112 1.8e-45 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly damaging Het
Other mutations in Stt3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Stt3a APN 9 36,660,933 (GRCm39) nonsense probably null
IGL02644:Stt3a APN 9 36,663,649 (GRCm39) missense possibly damaging 0.70
IGL02710:Stt3a APN 9 36,670,041 (GRCm39) missense probably damaging 0.99
IGL03085:Stt3a APN 9 36,644,266 (GRCm39) intron probably benign
IGL03180:Stt3a APN 9 36,670,552 (GRCm39) missense probably damaging 1.00
IGL03295:Stt3a APN 9 36,674,627 (GRCm39) splice site probably null
Scramble UTSW 9 36,646,762 (GRCm39) missense probably damaging 1.00
Western UTSW 9 36,646,682 (GRCm39) missense probably damaging 1.00
R0314:Stt3a UTSW 9 36,660,841 (GRCm39) intron probably benign
R0731:Stt3a UTSW 9 36,646,808 (GRCm39) missense probably damaging 1.00
R1188:Stt3a UTSW 9 36,662,636 (GRCm39) missense probably damaging 1.00
R1797:Stt3a UTSW 9 36,654,711 (GRCm39) critical splice donor site probably null
R1846:Stt3a UTSW 9 36,674,681 (GRCm39) missense probably damaging 1.00
R2152:Stt3a UTSW 9 36,659,292 (GRCm39) missense probably damaging 1.00
R2220:Stt3a UTSW 9 36,660,847 (GRCm39) critical splice donor site probably null
R2317:Stt3a UTSW 9 36,659,371 (GRCm39) missense probably benign 0.08
R3689:Stt3a UTSW 9 36,670,618 (GRCm39) missense probably damaging 1.00
R4299:Stt3a UTSW 9 36,674,640 (GRCm39) missense probably damaging 1.00
R4586:Stt3a UTSW 9 36,653,089 (GRCm39) missense probably damaging 1.00
R4595:Stt3a UTSW 9 36,646,808 (GRCm39) missense probably damaging 1.00
R4689:Stt3a UTSW 9 36,644,225 (GRCm39) missense possibly damaging 0.91
R4736:Stt3a UTSW 9 36,661,008 (GRCm39) missense probably benign 0.01
R5145:Stt3a UTSW 9 36,646,762 (GRCm39) missense probably damaging 1.00
R5208:Stt3a UTSW 9 36,657,891 (GRCm39) missense possibly damaging 0.78
R5665:Stt3a UTSW 9 36,670,610 (GRCm39) missense probably damaging 1.00
R5748:Stt3a UTSW 9 36,663,696 (GRCm39) missense probably benign 0.21
R6341:Stt3a UTSW 9 36,662,592 (GRCm39) missense probably damaging 1.00
R6853:Stt3a UTSW 9 36,653,023 (GRCm39) missense possibly damaging 0.89
R6859:Stt3a UTSW 9 36,646,682 (GRCm39) missense probably damaging 1.00
R7453:Stt3a UTSW 9 36,659,266 (GRCm39) missense possibly damaging 0.91
R7495:Stt3a UTSW 9 36,659,235 (GRCm39) missense probably benign 0.03
R7745:Stt3a UTSW 9 36,662,535 (GRCm39) nonsense probably null
R8007:Stt3a UTSW 9 36,653,065 (GRCm39) missense probably damaging 1.00
R9176:Stt3a UTSW 9 36,662,592 (GRCm39) missense probably damaging 1.00
R9218:Stt3a UTSW 9 36,670,556 (GRCm39) missense probably damaging 0.98
R9552:Stt3a UTSW 9 36,645,675 (GRCm39) missense probably benign 0.00
R9622:Stt3a UTSW 9 36,661,025 (GRCm39) missense possibly damaging 0.95
R9784:Stt3a UTSW 9 36,670,079 (GRCm39) missense probably damaging 0.97
Posted On 2014-05-07